CSF2RB mutation-related hereditary pulmonary alveolar proteinosis: the "long and winding road" into adulthood.

Spyros A Papiris,Camille Louvrier,Aurélie Fabre,Loukas Kaklamanis,Iraklis Tsangaris,Frantzeska Frantzeskaki,Ilias E Dimeas,Marie-Pierre Debray, Foteini Karakontaki,Maria Kallieri,Lykourgos Kolilekas,Zoe Daniil,Alexandra Giatromanolaki,Caroline Kannengiesser,Raphael Borie,Nadia Nathan,Matthias Griese,Effrosyni D Manali

ERJ open research（2023）

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摘要

Genetic analysis pre-lung transplantation diagnosed a case of hereditary pulmonary alveolar proteinosis (PAP) complicated by fibrosis in adulthood. The need for genetic testing in GM-CSF autoantibody negative and unclassifiable PAP is highlighted. https://bit.ly/3QcsYwM.

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